I want to start by saying that Deb and the FOD Support Group has brought an immense amount of support to our family. I was led to the group after meeting with our genetic doctors for the first time. So up front, thank you Deb!
My husband, Evan, and I decided in early 2010 that it was time to extend our family. After recently, getting married, buying a house and finding our church home it was time to start a family. We had a bit of trouble getting pregnant and started on Clomed and the very first month was a success! That is just how the women in my family work – our bodies need a ‘jump start’ and then we hit the ground running!
The journey of pregnancy was so much fun for Evan and I. Well, maybe me more than Evan; I might have always wanted the house freezing cold, scrambled eggs and absolutely no corn dogs! I enjoyed every part of the pregnancy. I didn’t experience much morning sickness, was active, all labs and medical items were always right on track and over the holiday season I could eat whatever I wanted in stretchy pants! We attended classes for breastfeeding and natural births; as I wanted to have a natural birth using Hypnobabies techniques. In the spirit of our ‘stubborn’ family, with about three weeks until our due date Lucas, was turned the wrong way. We scheduled an external cephalic version (ECV) and a caesarean section. I had my heart set on a natural birth and that was just not how Lucas wanted to enter the world.
On January 25, 2011, we arrived at the hospital and prepared for the coming procedures. I had two OBGYN’s performing the ECV and caesarean, with our family doctor/pedestrian waiting to grab Lucas once he was out. My OB’s attempted the ECV procedure twice and Lucas simply went back to his original position each time. So, since Lucas didn’t want to come naturally, we went in and got him! He was born at 12:55 p.m., weighing seven pounds and ten ounces and 20 inches long. He was so beautiful and perfect. Following all the perfect evaluations from the doctors, Lucas and I were wheeled from the operating room back to a room to start our new journey with family waiting!
During our hospital stay, Evan, Lucas and I learned the basics of diapers, talked to all the nurses about care and blood draws (Newborn Screening), put our latching and feeding techniques to work, and got to know our perfect son! We had all the emotions, excitement, questions, fear and nerves of all new parents. We signed all the proper paper work and installed the car seat correctly and made our first ‘scary’ five minute car ride home with our son! We had all the normal visitors, started our new routines and began to learn life as the three of us!
Mother Nature was not cooperating because just days after bringing Lucas home, we had an ice storm that sealed us up in our house for about four days. Evan and I were scared we would lose power, but by the grace of God we did not. On day eight, mid-afternoon the phone rang. Lucas and I were feeding and Evan was talking with the Pastor’s wife about the last few days. It was the pediatrician on-call since ours was on a mission trip. She informed me that the newborn screen results were in and a few things were showing abnormal and we needed to call Doctor Hainline at Riley Children’s Hospital to make an appointment tomorrow. I was unable to speak, started crying and handed Lucas to Evan. The on-call doctor was trying her best to comfort me and also give me names and phone numbers and said to call her back after I had spoken to Riley, to ensure we got in.
So with courage and strength that I now know only a parent can have, I pulled myself together and called the hospital to make the appointment. Riley Children’s Hospital is the best around and is not a place you ‘get in tomorrow’ unless something is very wrong.
The first appointment with Hainline’s office was one of the scariest meetings we had ever been in. First, they asked us if we had any questions and I replied “Um yes, why are we here?” In the room was the genetic counselor, the nutritionist, metabolism nurse and Doctor Hainline, the genetic counselor started to tell us what was going on. They wanted to take blood and urine samples to perform a few more tests and said that Lucas has a rare genetic disorder called Glutaric Acidemia Type 2. She told us of the common medications, the common developmental status’, the unknown life expectancy, dietary requirements, the rareness of the disorder and basically scared Evan and I to death as new parents.
Here I was holding my nine day old baby boy, crying my eyes out, thanking God for my miracle, and praying he wouldn’t die in his sleep that night. This meeting was about three hours long. We had questions but mostly it was simply us just listening to what they were saying. At the end of the meeting we set up an appointment to get the lab results, were given a script for Carnitine, an emergency protocol letter, and handed a couple of packets of information to read. Then they showed us where to go to get Lucas’ blood drawn. That Friday afternoon our lives, yet again, changed forever.
We stopped by the pharmacy on our way home in silence, mostly because I could not speak, and wondered what this all meant. Over the next couple of days, I breastfed Lucas every two hours around the clock, started his medicine, watched for all the different signs we were told about, took shifts watching him sleep and wrote down all the questions we had. We informed the pediatrician and she also got in touch with the metabolic team to get a summary of the diagnosis. The two week doctor’s visit with the pediatrician went well, from a newborn baby stand point. Lucas had gained a bit of weight, physically looked well from a newborn baby stand point. Lucas had gained a bit of weight, physically looked well and he was measuring well with a slightly larger head. He looked and seemed to act like any normal newborn baby. No one would have ever known what was happening on the inside.
The lab results finally came in confirming GAII. We were still allowed to give him breast milk, but I started pumping in order to measure his intake. We started a Poly-Vi-Sol Multivitamin with Iron, CoQ 10 and increased the Carnitine dose. We set up an appointment for an echocardiogram and were told to hold off on all immunizations until the next round of blood work. After that he could have them, just not all at once. We arranged the time intervals with the pediatrician.
Evan and I were doing our best to stay strong and figure everything out. We have a wonderful church family that was caring for us, our best friends and family were there every day to help with small tasks around the house, to let us sleep or just to listen to us cry and vent. Prior to the ‘phone call’ I was already struggling with post-partum depression and this situation only intensified that. So we were trying to make our way through that part of the journey as well. In the spirit of having to know everything always, I started researching online. Anything and everything I could find I read. Most of it was extremely fatal and depressing and not at all encouraging. I would call and email the genetic counselor with questions and articles. When I asked her if I was bothering her will all my inquiries, she kindly replied “No, and said to contact her with anything.”
Since then we watched Lucas and tried to learn everything we could about his actions, behaviors, and his temperament, as any parent does to try and discern normal baby/toddler things from symptoms of GA2. At three months of age Lucas came down with RSV and pneumonia, which landed us in the hospital for eight days (five in the NICU). We were on IV fluids, VapoTherm, oxygen, NG tube and steroids. He was in the lower reference range of being acidotic, but thankfully never got there. He did though have a terrible time breathing and his oxygen saturation was dangerously low. We took this opportunity to get the gene sequencing done on all three of us to figure out exactly what the mutations were. These were sent off to Denver for analysis. We did go home on oxygen and a NG tube.
The DNA results came in about three months later with a positive ETFDH mutation, with the ETFA and ETFB genes showing no mutation at all. This mutation is riboflavin (B2) responsive, so 50 mg was immediately started. Side note: B2 is extremely nasty tasting.
Skipping ahead to look back…..
Lucas is 18 month old now and growing and developing beautifully. Around nine months old we enrolled him in a program called First Steps and began to get him PT, OT and nutrition therapy. And this fall we will get him evaluated for speech therapy. He has met all of his milestones in a timely manner, but the help from First Steps gave him the confidence to attain our goals for him with much more ease. Since the first hospitalization with RSV and pneumonia at three months old, we have been admitted five other times through the ER and directly to the NICU for croup, HMV, pneumonia, and an asthma attack.
We have come home twice on oxygen and additional breathing treatments. We have even had “T” tubes placed in his ears right after his first birthday because of the drainage and ear infections. We have had barium swallow tests to check for aspiration, because of all the congestion. The techs only were successful with a handful of swallows, so we might end up repeating this test. We are followed very closely by the Ear, Nose, Throat and Allergy doctor as well. Pulmonary is also following us closely since Lucas has never really been able to completely recover from all the respiratory distress.
Evan and I have been very blessed to have wonderful jobs and fantastic insurance, which has taken a great deal of pressure off our shoulders. I have been lucky to have had so much vacation time and most of all Evan’s job…this past March when Lucas was hospitalized with what we are calling a severe asthma attack. We were scared to send Lucas back to the sitter’s house in fear of another illness. Evan was able to become a stay at home dad and will return to work mid-August. This has allowed us to get Lucas’ health back on track. We are off oxygen, breathing treatments and inhalers now and only a simple nose spray before bed. During this time we concentrated on furthering Lucas’ development and started some baby sign language techniques for communication since he doesn’t use words yet. It’s as if all the ear infections affected his hearing and we lost the first year of sound, but we are trying to catch up since the tubes were placed. This summer has presented some problems with con-trolling his body temperature in the 100 degree heat and humidity, but with ice packs and Gatorade we have keep him regulated with no real scares.
Again, during the last 18 months and the roller coaster of life that we have been on, Lucas has been the happiest child. With oxygen tubes in his nose, IV’s in his head/hands/feet, he always smiles, wants to play and is happy to see everyone. He absolutely loves bath time and to swim. He has no fear of new things and he loves to eat Pop Tarts and bananas.
In writing this letter, I just returned from the 2012 FOD Conference in Portland and had an amazing experience. I was able to personally meet Deb, GA2 moms, other FOD families and some of the top metabolic doctors in the world. The conference weekend is beyond words. Being able to learn other’s stories, good times and bad times and speak with the doctors on a personal one-on-one level was priceless. The medical knowledge, the practical knowledge and the encouragement from this weekend was love and passion at its purest. Thank you Deb for making this all possible and providing a canvas for all of us to paint our stories on.